E73D (p.Glu73Asp) variant of SCN9A (Nav1.7)
E73D (p.Glu73Asp) in SCN9A (Nav1.7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E73D (p.Glu73Asp) variant details
- p.Glu73Asp
- gnomAD rs1183962696
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- MetaLR 0.90
- MetaSVM 0.95
- CADD 18.90
- PolyPhen-2 0.25
- SIFT 0.00
- Population evidence available
- Structural context available